Canonical Allele Identifier: CA2070678

Gene: NDUFS1

Linked Data

• dbSNP Id: rs768317191
• ExAC: 2:207009792 TAAAG / T
• gnomAD v2: 2-207009792-TAAAG-T
• gnomAD v3: 2-206145068-TAAAG-T
• gnomAD v4: 2-206145068-TAAAG-T
• MyVariant Identifiers: chr2:g.207009793_207009796del (hg19) ; chr2:g.206145070_206145073del (hg38) ; chr2:g.206145069_206145072del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145073_206145076del , CM000664.2:g.206145073_206145076del	GRCh38
NC_000002.11:g.207009797_207009800del , CM000664.1:g.207009797_207009800del	GRCh37
NC_000002.10:g.206718042_206718045del	NCBI36
NG_009248.1:g.19392_19395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.738-46_738-43del MANE Select	ENSP00000233190.5:n.738-46_738-43del
ENST00000233190.10:c.738-46_738-43del	ENSP00000233190.5:n.738-46_738-43del
ENST00000423725.5:c.567-46_567-43del	ENSP00000397760.1:n.567-46_567-43del
ENST00000432169.5:c.405-46_405-43del	ENSP00000409689.1:n.405-46_405-43del
ENST00000440274.5:c.630-46_630-43del	ENSP00000409766.1:n.630-46_630-43del
ENST00000449699.5:c.738-46_738-43del	ENSP00000399912.1:n.738-46_738-43del
ENST00000455934.6:c.780-46_780-43del	ENSP00000392709.2:n.780-46_780-43del
ENST00000457011.5:c.390-46_390-43del	ENSP00000400976.1:n.390-46_390-43del
NM_001199981.1:c.630-46_630-43del	NP_001186910.1:n.630-46_630-43del
NM_001199982.1:c.405-46_405-43del	NP_001186911.1:n.405-46_405-43del
NM_001199983.1:c.567-46_567-43del	NP_001186912.1:n.567-46_567-43del
NM_001199984.1:c.780-46_780-43del	NP_001186913.1:n.780-46_780-43del
NM_005006.6:c.738-46_738-43del	NP_004997.4:n.738-46_738-43del
XM_017004188.2:c.-53-15_-53-12del	XP_016859677.1:n.-53-15_-53-12del
NM_001199981.2:c.630-46_630-43del	NP_001186910.1:n.630-46_630-43del
NM_001199982.2:c.405-46_405-43del	NP_001186911.1:n.405-46_405-43del
NM_001199983.2:c.567-46_567-43del	NP_001186912.1:n.567-46_567-43del
NM_005006.7:c.738-46_738-43del MANE Select	NP_004997.4:n.738-46_738-43del
NM_001199984.2:c.780-46_780-43del	NP_001186913.1:n.780-46_780-43del